MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
0.300 Biomarker disease CTD_human Refining the phenotype associated with MEF2C haploinsufficiency. 20412115 2010